New mutations have long been known to cause genetic disease, but their true contribution to
the disease burden can only now be determined using family-based whole-genome or …

Genomic technologies, including next-generation sequencing (NGS) and single-nucleotide
polymorphism (SNP) microarrays, have provided unprecedented opportunities to assess …

Abstract Germline SAMD9 and SAMD9L mutations (SAMD9/9L mut) predispose to
myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we …

Somatic mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 occur in gliomas and
acute myeloid leukaemia (AML). Since patients with multiple enchondromas have …

A major unanswered question in neuroscience is whether there exists genomic variability
between individual neurons of the brain, contributing to functional diversity or to an …

DNA mutations are inevitable. Despite proficient DNA repair mechanisms, somatic cells
accumulate mutations during development and aging, generating cells with different …

Although the human germline mutation rate is higher than that in any other well-studied
species, the rate is not exceptional once the effective genome size and effective population …

Background Genetic mutations that cause human disease are conventionally considered to
be inherited from one's parents and present in all somatic (body) cells. We do know …

Age-related accumulation of postzygotic DNA mutations results in tissue genetic
heterogeneity known as somatic mosaicism. Although implicated in aging as early as the …

Nearly all of the genetic material among cells within an organism is identical. However,
single-nucleotide variants (SNVs), small insertions/deletions (indels), copy-number variants …